ClinVar Miner

List of variants in gene SHOC2 reported as likely benign for RASopathy

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Gene type:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.335T>C (p.Ile112Thr) rs201289608 0.00021
NM_007373.4(SHOC2):c.377C>T (p.Thr126Ile) rs138375593 0.00011
NM_007373.4(SHOC2):c.1098A>C (p.Arg366=) rs758620827 0.00007
NM_007373.4(SHOC2):c.363G>A (p.Glu121=) rs115713408 0.00007
NM_007373.4(SHOC2):c.1239G>T (p.Gln413His) rs200215822 0.00006
NM_007373.4(SHOC2):c.1423-15T>C rs775689426 0.00005
NM_007373.4(SHOC2):c.613A>G (p.Thr205Ala) rs768411950 0.00005
NM_007373.4(SHOC2):c.972+11G>T rs201644470 0.00005
NM_007373.4(SHOC2):c.1541-10T>G rs202207809 0.00004
NM_007373.4(SHOC2):c.1545A>G (p.Thr515=) rs376161380 0.00004
NM_007373.4(SHOC2):c.1731A>G (p.Pro577=) rs370929606 0.00004
NM_007373.4(SHOC2):c.1285-18T>C rs753581018 0.00003
NM_007373.4(SHOC2):c.849G>A (p.Leu283=) rs200544176 0.00003
NM_007373.4(SHOC2):c.972+8G>C rs748386843 0.00003
NM_007373.4(SHOC2):c.1447T>C (p.Leu483=) rs539117121 0.00002
NM_007373.4(SHOC2):c.1452C>G (p.Thr484=) rs774870302 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_007373.4(SHOC2):c.489C>T (p.Asp163=) rs2493839760 0.00002
NM_007373.4(SHOC2):c.842-16_842-15insG rs771764590 0.00002
NM_007373.4(SHOC2):c.1023T>C (p.Asn341=) rs372885629 0.00001
NM_007373.4(SHOC2):c.1033T>C (p.Leu345=) rs1220830387 0.00001
NM_007373.4(SHOC2):c.1047T>C (p.Gly349=) rs199869304 0.00001
NM_007373.4(SHOC2):c.1092C>T (p.His364=) rs748214044 0.00001
NM_007373.4(SHOC2):c.1101C>T (p.Ile367=) rs777877344 0.00001
NM_007373.4(SHOC2):c.1161+7A>G rs368326616 0.00001
NM_007373.4(SHOC2):c.1164C>T (p.Asp388=) rs544426978 0.00001
NM_007373.4(SHOC2):c.1215A>G (p.Val405=) rs749123957 0.00001
NM_007373.4(SHOC2):c.1272C>T (p.Leu424=) rs144379168 0.00001
NM_007373.4(SHOC2):c.1281T>C (p.Leu427=) rs760398997 0.00001
NM_007373.4(SHOC2):c.1284+17A>T rs1250751516 0.00001
NM_007373.4(SHOC2):c.1335A>G (p.Gly445=) rs1441866772 0.00001
NM_007373.4(SHOC2):c.1344G>A (p.Arg448=) rs1309539987 0.00001
NM_007373.4(SHOC2):c.1347G>A (p.Lys449=) rs1457082378 0.00001
NM_007373.4(SHOC2):c.1404A>G (p.Ala468=) rs764705344 0.00001
NM_007373.4(SHOC2):c.1422+11T>G rs1848527569 0.00001
NM_007373.4(SHOC2):c.1422+15G>T rs368190137 0.00001
NM_007373.4(SHOC2):c.1503T>C (p.Leu501=) rs554334092 0.00001
NM_007373.4(SHOC2):c.1515A>G (p.Leu505=) rs1332352631 0.00001
NM_007373.4(SHOC2):c.1540+12G>A rs369850100 0.00001
NM_007373.4(SHOC2):c.1540+9C>T rs779780436 0.00001
NM_007373.4(SHOC2):c.1541-18G>C rs761816025 0.00001
NM_007373.4(SHOC2):c.1541-19T>G rs1848566446 0.00001
NM_007373.4(SHOC2):c.1541-20T>A rs751469129 0.00001
NM_007373.4(SHOC2):c.1541-6A>G rs954660756 0.00001
NM_007373.4(SHOC2):c.1541-7T>A rs1564732053 0.00001
NM_007373.4(SHOC2):c.1665C>T (p.His555=) rs1060504382 0.00001
NM_007373.4(SHOC2):c.1695T>A (p.Pro565=) rs770183343 0.00001
NM_007373.4(SHOC2):c.1704C>A (p.Ile568=) rs1219650171 0.00001
NM_007373.4(SHOC2):c.171C>T (p.Ser57=) rs1554857645 0.00001
NM_007373.4(SHOC2):c.183A>G (p.Gln61=) rs371640183 0.00001
NM_007373.4(SHOC2):c.213G>A (p.Thr71=) rs202007232 0.00001
NM_007373.4(SHOC2):c.303T>C (p.Asn101=) rs750568201 0.00001
NM_007373.4(SHOC2):c.319T>C (p.Leu107=) rs1847639079 0.00001
NM_007373.4(SHOC2):c.333T>C (p.Ser111=) rs758161464 0.00001
NM_007373.4(SHOC2):c.354A>G (p.Ser118=) rs1302774310 0.00001
NM_007373.4(SHOC2):c.390A>G (p.Leu130=) rs143895483 0.00001
NM_007373.4(SHOC2):c.393C>T (p.Tyr131=) rs2493839465 0.00001
NM_007373.4(SHOC2):c.450A>G (p.Thr150=) rs1382025894 0.00001
NM_007373.4(SHOC2):c.618T>G (p.Thr206=) rs772520981 0.00001
NM_007373.4(SHOC2):c.703+17T>G rs767525446 0.00001
NM_007373.4(SHOC2):c.704-10C>T rs748271956 0.00001
NM_007373.4(SHOC2):c.711A>G (p.Leu237=) rs1347107037 0.00001
NM_007373.4(SHOC2):c.801C>T (p.Asp267=) rs1332283706 0.00001
NM_007373.4(SHOC2):c.825C>T (p.Asp275=) rs199633289 0.00001
NM_007373.4(SHOC2):c.841+16G>T rs1228162304 0.00001
NM_007373.4(SHOC2):c.879T>C (p.Tyr293=) rs773817796 0.00001
NM_007373.4(SHOC2):c.90C>T (p.Ala30=) rs1322113272 0.00001
NM_007373.4(SHOC2):c.972+16G>A rs1438996295 0.00001
NM_007373.4(SHOC2):c.981A>G (p.Leu327=) rs1440014484 0.00001
NM_007373.4(SHOC2):c.1002T>C (p.Asn334=)
NM_007373.4(SHOC2):c.1032G>A (p.Gln344=) rs1848437161
NM_007373.4(SHOC2):c.1044G>T (p.Val348=) rs2134173978
NM_007373.4(SHOC2):c.1053A>G (p.Pro351=) rs1848437494
NM_007373.4(SHOC2):c.1095T>C (p.Asn365=) rs2493945713
NM_007373.4(SHOC2):c.1101C>A (p.Ile367=)
NM_007373.4(SHOC2):c.1152G>A (p.Leu384=) rs2493945872
NM_007373.4(SHOC2):c.1161+11A>G
NM_007373.4(SHOC2):c.1161+15G>C rs975104320
NM_007373.4(SHOC2):c.1161+9A>C rs201795589
NM_007373.4(SHOC2):c.1162-13T>C rs1279529385
NM_007373.4(SHOC2):c.1162-15T>C rs2493953883
NM_007373.4(SHOC2):c.1162-18T>G rs1848492988
NM_007373.4(SHOC2):c.1162-19T>G rs1848492943
NM_007373.4(SHOC2):c.1162-4C>T rs2493953951
NM_007373.4(SHOC2):c.1162-5G>T rs2493953944
NM_007373.4(SHOC2):c.1176A>G (p.Thr392=) rs368669769
NM_007373.4(SHOC2):c.1179A>G (p.Ser393=) rs1848493649
NM_007373.4(SHOC2):c.1185C>T (p.Pro395=) rs369036204
NM_007373.4(SHOC2):c.1186T>C (p.Leu396=) rs1554863245
NM_007373.4(SHOC2):c.1200T>C (p.Thr400=)
NM_007373.4(SHOC2):c.1219T>C (p.Leu407=) rs2493954156
NM_007373.4(SHOC2):c.1254T>C (p.Pro418=) rs2493954277
NM_007373.4(SHOC2):c.1272C>A (p.Leu424=) rs144379168
NM_007373.4(SHOC2):c.1284+12T>C rs147007474
NM_007373.4(SHOC2):c.1284+13G>A
NM_007373.4(SHOC2):c.1284+7A>G
NM_007373.4(SHOC2):c.1285-20_1285-18del rs781425507
NM_007373.4(SHOC2):c.1285-5A>C rs1848524553
NM_007373.4(SHOC2):c.1290T>C (p.Leu430=) rs754799553
NM_007373.4(SHOC2):c.129T>C (p.Pro43=) rs2134121133
NM_007373.4(SHOC2):c.1329T>A (p.Gly443=)
NM_007373.4(SHOC2):c.1407T>C (p.Tyr469=) rs2493958723
NM_007373.4(SHOC2):c.1422+10A>G
NM_007373.4(SHOC2):c.1422+12G>A
NM_007373.4(SHOC2):c.1422+13C>T
NM_007373.4(SHOC2):c.1422+19_1422+30del
NM_007373.4(SHOC2):c.1422+8T>G rs1267333219
NM_007373.4(SHOC2):c.1422+9_1422+11del rs750754038
NM_007373.4(SHOC2):c.1423-18A>G rs1228751828
NM_007373.4(SHOC2):c.1461C>A (p.Pro487=) rs2134180702
NM_007373.4(SHOC2):c.1485T>C (p.Asn495=) rs1337625654
NM_007373.4(SHOC2):c.1518T>G (p.Leu506=) rs1848535521
NM_007373.4(SHOC2):c.1521T>C (p.Thr507=) rs780849465
NM_007373.4(SHOC2):c.1540+18G>A rs2493960322
NM_007373.4(SHOC2):c.1540+8C>A rs771283010
NM_007373.4(SHOC2):c.1540+8C>T rs771283010
NM_007373.4(SHOC2):c.1541-12T>G
NM_007373.4(SHOC2):c.1541-6A>C rs954660756
NM_007373.4(SHOC2):c.1541-6A>T
NM_007373.4(SHOC2):c.1557A>G (p.Leu519=) rs2493965948
NM_007373.4(SHOC2):c.1566G>C (p.Leu522=) rs2493965979
NM_007373.4(SHOC2):c.1602C>G (p.Pro534=) rs776320801
NM_007373.4(SHOC2):c.1602C>T (p.Pro534=)
NM_007373.4(SHOC2):c.1608G>A (p.Glu536=) rs2134183063
NM_007373.4(SHOC2):c.1609C>T (p.Leu537=) rs1164221311
NM_007373.4(SHOC2):c.1614A>G (p.Ala538=) rs148813760
NM_007373.4(SHOC2):c.1656A>C (p.Pro552=) rs2134183125
NM_007373.4(SHOC2):c.1659C>G (p.Leu553=)
NM_007373.4(SHOC2):c.1674T>G (p.Pro558=) rs1554863867
NM_007373.4(SHOC2):c.1689G>T (p.Gly563=) rs759803668
NM_007373.4(SHOC2):c.1692G>A (p.Gly564=) rs2134183184
NM_007373.4(SHOC2):c.1704C>T (p.Ile568=)
NM_007373.4(SHOC2):c.186A>C (p.Pro62=) rs1449820117
NM_007373.4(SHOC2):c.192G>A (p.Val64=) rs1185076769
NM_007373.4(SHOC2):c.210T>C (p.Asn70=) rs2493838705
NM_007373.4(SHOC2):c.219A>G (p.Lys73=)
NM_007373.4(SHOC2):c.222G>A (p.Arg74=)
NM_007373.4(SHOC2):c.240G>T (p.Gly80=) rs2134121303
NM_007373.4(SHOC2):c.261T>C (p.Asn87=) rs1286847375
NM_007373.4(SHOC2):c.270G>A (p.Val90=) rs2493839042
NM_007373.4(SHOC2):c.27A>G (p.Lys9=) rs150364514
NM_007373.4(SHOC2):c.348A>G (p.Pro116=) rs2493839322
NM_007373.4(SHOC2):c.351A>C (p.Ser117=) rs1847640105
NM_007373.4(SHOC2):c.364T>C (p.Leu122=) rs745407593
NM_007373.4(SHOC2):c.372A>G (p.Gln124=)
NM_007373.4(SHOC2):c.408G>A (p.Gln136=) rs147251195
NM_007373.4(SHOC2):c.423G>A (p.Glu141=) rs1847641416
NM_007373.4(SHOC2):c.441T>C (p.Asn147=) rs2134121592
NM_007373.4(SHOC2):c.451C>T (p.Leu151=) rs2493839648
NM_007373.4(SHOC2):c.459A>G (p.Leu153=) rs2493839663
NM_007373.4(SHOC2):c.468T>C (p.Asn156=) rs2493839676
NM_007373.4(SHOC2):c.471A>G (p.Ser157=) rs2493839695
NM_007373.4(SHOC2):c.480T>C (p.Ser160=)
NM_007373.4(SHOC2):c.501C>T (p.Asn167=) rs1440037740
NM_007373.4(SHOC2):c.564G>T (p.Val188=)
NM_007373.4(SHOC2):c.591T>C (p.Leu197=) rs2493840250
NM_007373.4(SHOC2):c.600C>G (p.Arg200=) rs1188255409
NM_007373.4(SHOC2):c.636A>G (p.Lys212=) rs2493840471
NM_007373.4(SHOC2):c.639C>T (p.Asn213=)
NM_007373.4(SHOC2):c.645A>G (p.Ser215=) rs2134121976
NM_007373.4(SHOC2):c.654C>T (p.Ser218=) rs2493840522
NM_007373.4(SHOC2):c.660T>C (p.Leu220=) rs1342653646
NM_007373.4(SHOC2):c.663C>T (p.Ser221=) rs2493840547
NM_007373.4(SHOC2):c.69A>G (p.Glu23=)
NM_007373.4(SHOC2):c.703+15ATT[5] rs370351651
NM_007373.4(SHOC2):c.703+8G>A rs2493840616
NM_007373.4(SHOC2):c.703+9C>G
NM_007373.4(SHOC2):c.720C>A (p.Leu240=) rs759714493
NM_007373.4(SHOC2):c.726G>A (p.Thr242=) rs775815588
NM_007373.4(SHOC2):c.726G>T (p.Thr242=) rs775815588
NM_007373.4(SHOC2):c.741C>T (p.His247=) rs1264093977
NM_007373.4(SHOC2):c.774A>G (p.Gly258=) rs753237615
NM_007373.4(SHOC2):c.786G>A (p.Gln262=) rs754545927
NM_007373.4(SHOC2):c.798T>G (p.Leu266=)
NM_007373.4(SHOC2):c.81G>A (p.Glu27=)
NM_007373.4(SHOC2):c.841+10_841+12del
NM_007373.4(SHOC2):c.841+13A>G rs1848065425
NM_007373.4(SHOC2):c.841+20A>G rs2493891453
NM_007373.4(SHOC2):c.841+7G>A rs2134149305
NM_007373.4(SHOC2):c.842-16T>G rs2493932096
NM_007373.4(SHOC2):c.842-20T>G rs2134168524
NM_007373.4(SHOC2):c.843A>T (p.Gly281=) rs1215463524
NM_007373.4(SHOC2):c.84A>C (p.Ala28=) rs753165612
NM_007373.4(SHOC2):c.873G>A (p.Leu291=) rs1431404987
NM_007373.4(SHOC2):c.888G>C (p.Leu296=) rs2134168611
NM_007373.4(SHOC2):c.912A>G (p.Ala304=) rs2134168641
NM_007373.4(SHOC2):c.927T>C (p.Leu309=) rs755112435
NM_007373.4(SHOC2):c.951T>C (p.Asn317=) rs1288585320
NM_007373.4(SHOC2):c.972+11del rs760708561
NM_007373.4(SHOC2):c.972+12A>G rs913524232
NM_007373.4(SHOC2):c.972+19A>G rs2493932752
NM_007373.4(SHOC2):c.973-13A>T
NM_007373.4(SHOC2):c.973-5T>A
NM_007373.4(SHOC2):c.979T>C (p.Leu327=) rs1239801718

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